In most cases, spina bifida is diagnosed prenatally, or
before birth. However, some mild cases may go unnoticed until after birth, or
postnatally. Very mild cases, in which there are no symptoms, may never be
detected.
Prenatal Diagnosis
The most common screening methods used to look for spina
bifida during pregnancy are second trimester maternal serum alpha fetoprotein
(MSAFP) screening and fetal ultrasound. The MSAFP screen measures the level of a
protein
called alpha-fetoprotein (AFP), which is made naturally by the fetus and
placenta. During
pregnancy, a small amount of AFP normally crosses the placenta and enters the
mother's bloodstream. But if abnormally high levels of this protein appear in
the mother's bloodstream it may indicate that the fetus has a neural tube
defect. The MSAFP test, however, is not specific for spina bifida, and the test
cannot definitively determine that there is a problem with the fetus. If a high
level of AFP is detected, the doctor may request additional testing, such as an
ultrasound or amniocentesis to help determine the cause.
The second trimester MSAFP screen described above may be
performed alone or as part of a larger, multiple-marker screen. Multiple-marker
screens look not only for neural tube defects, but also for other birth defects,
including Down syndrome and other chromosomal abnormalities. First trimester screens for
chromosomal abnormalities also exist but signs of spina bifida are not evident
until the second trimester when the MSAFP screening is performed.
Amniocentesis—an exam in which the doctor removes samples of fluid from the
amniotic sac that surrounds the fetus—may also be used to diagnose spina bifida.
Although amniocentesis cannot reveal the severity of spina bifida, finding high
levels of AFP may indicate that the disorder is present.
Postnatal Diagnosis
Mild cases of spina bifida not diagnosed during prenatal
testing may be detected postnatally by X-ray during a routine examination.
Doctors may use magnetic resonance imaging (MRI) or a computed tomography (CT)
scan to get a clearer view of the spine and vertebrae. Individuals with the more
severe forms of spina bifida often have muscle weakness in their feet, hips, and
legs. If hydrocephalus is suspected, the doctor may request a CT scan and/or
X-ray of the skull to look for extra fluid inside the brain.
There are many causes of back pain. Pain in the low back can relate to the bony lumbar spine, discs between the vertebrae, ligaments around the spine and discs, spinal cord and nerves, muscles of the low back, internal organs of the pelvis and abdomen, and the skin covering the lumbar area.
Down syndrome is a chromosomal disorder that results in the presence of an additional third chromosome 21, also referred to as trisomy 21. Most individuals with Down syndrome have widely recognizable physical characteristics. The severity of Down syndrome ranges from mild to severe. Diagnostic testing for Down syndrome include amniocentesis, chorionic villus sampling, and percutaneous umbilical cord sampling. The most common risk factor for Down syndrome is a woman's age.
Hydrocephalus is an abnormal buildup of cerebrospinal fluid (CSF) in the ventricles of the brain. The fluid is often under increased pressure and can compress and damage the brain. Symptoms of hydrocephalus vary with age, progression of the disease, and individual tolerance to the condition. Hydrocephalus is most often treated by surgery in which a shunt system is inserted.
Encephalitis is a brain inflammation that causes sudden fever, vomiting, headache, light sensitivity, stiff neck and back, drowsiness, and irritability. Meningitis is an infection that causes inflammation of the meninges that surround the brain and spinal cord. Symptoms of meningitis include high fever, headache, nausea, vomiting, and stiff neck.
Alcohol intake by a pregnant mother may result in fetal alcohol syndrome (FAS) in her child. A child with FAS may be hyperactive and have a low IQ, a small head, a growth lag, short eye openings, flattened cheekbones, a short nose, a smooth, thin upper lip, shortening of the fourth and fifth fingers, and a heart murmur.
Learning disabilities can cause an individual to have trouble learning and using skills such as reading, listening, writing, reading, speaking, reasoning, and performing mathematics. There is no cure for learning disabilities. Parents and teachers working together to properly diagnose learning disabilities can properly plan a course of education. For some, medication may be appropriate as complimentary treatment.
Birthmarks and other abnormal skin pigmentation is caused by the body's inability to produce enough melanin. Abnormal skin pigmentation can cause conditions such as vitiligo, pigmentation loss, melasma, albinism, port wine stains, macular stains and hemangioma.
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Birth defects have many causes and currently, are the leading cause of death for infants in the first year of life. Some of the causes of birth defects include genetic or chromosome problems. Exposure of the mother to rubella or German measles during pregnancy, or using drugs or alcohol during pregnancy. The treatment for birth defects depends upon the condition of the effected child.
Pregnancy planning is important to help prevent exposure of the mother and fetus to potentially harmful medications and substances during the early days, and throughout the pregnancy. Nutritional planning, prevention of birth defects, conditions such as high blood pressure, heart disease, diabetes, and kidney disease need careful monitoring. Gestational diabetes, preeclampsia, and pregnancy induced hypertension are conditions that may arise during pregnancy. Immunizations, inherited disorders, exercise, air travel, intercourse, and birth control are important factors to consider when planning a pregnancy.
Gestational diabetes is a condition that is first recognized during pregnancy and is characterized by high blood sugar. Approximately 4% of all pregnancies are diagnosed with gestational diabetes. Low blood sugar is prevented by hormones produced by the placenta during a woman's pregnancy. The actions of insulin are stopped by these hormones. Gestational diabetes is the result of the pancreas' s inability to produce enough insulin to overcome the effect of the increase hormones during pregnancy.
Urinary incontinence in children (enuresis) is twice as common in boys as in girls and may occur during the daytime or nighttime. Nighttime urinary incontinence is also called bedwetting and sleepwetting. The cause of nighttime incontinence in children is unknown. Daytime incontinence in children may be caused by an overactive bladder. Though many children overcome urinary incontinence naturally, it may be necessary to treat incontinence with medications, bladder training and moisture alarms, which wake the child when he or she begins to urinate.
Taking prescription medications or over-the-counter drugs or supplements should be discussed with your doctor. There are some medications that have been found to cause no problems in pregnancy, however, medications such as Accutane for acne, should never be taken during pregnancy.
Pregnancy can bring challenges like weight gain, stretch marks, varicose veins, heartburn, constipation, hemorrhoids, problems sleeping, and wondering if it is safe to have sex while pregnant. Learn how to manage and move through these challenges during pregnancy.
There are many syndromes and defects that may cause urine blockage in newborns. Defects in the urinary tract that may cause urine blockage include vesicoureteral reflux, ureteropelvic junction obstruction, bladder outlet obstruction, posterior urethral valves, nerve disease, and ureterocele. Syndromes that may cause urinary blockage include congenital heart defects, esophageal atresia, and prune belly syndrome. Treatment for urine blockage in newborns depends on the cause of the blockage.
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